Incidental Mutation 'R5567:Plb1'
ID |
436908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plb1
|
Ensembl Gene |
ENSMUSG00000029134 |
Gene Name |
phospholipase B1 |
Synonyms |
4632413E21Rik, 4930433E17Rik, 4930539A06Rik |
MMRRC Submission |
043124-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5567 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
32390035-32521700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32521543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1465
(T1465A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101376]
[ENSMUST00000202220]
|
AlphaFold |
Q3TTY0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000101376
AA Change: T1465A
|
SMART Domains |
Protein: ENSMUSP00000098927 Gene: ENSMUSG00000029134 AA Change: T1465A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
Pfam:Lipase_GDSL
|
398 |
672 |
4e-20 |
PFAM |
Pfam:Lipase_GDSL
|
745 |
1019 |
1.7e-17 |
PFAM |
Pfam:Lipase_GDSL
|
1101 |
1367 |
4.6e-15 |
PFAM |
transmembrane domain
|
1420 |
1442 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140191
AA Change: *191W
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144245
AA Change: D206G
|
Predicted Effect |
unknown
Transcript: ENSMUST00000202220
AA Change: T1465A
|
SMART Domains |
Protein: ENSMUSP00000144040 Gene: ENSMUSG00000029134 AA Change: T1465A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
Pfam:Lipase_GDSL
|
398 |
672 |
4e-20 |
PFAM |
Pfam:Lipase_GDSL
|
745 |
1019 |
1.7e-17 |
PFAM |
Pfam:Lipase_GDSL
|
1101 |
1367 |
4.6e-15 |
PFAM |
transmembrane domain
|
1420 |
1442 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202687
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
C |
T |
6: 86,932,150 (GRCm39) |
Q374* |
probably null |
Het |
Adam19 |
A |
G |
11: 46,027,077 (GRCm39) |
D570G |
probably damaging |
Het |
Aqr |
G |
A |
2: 113,979,451 (GRCm39) |
T328M |
probably damaging |
Het |
Bltp3b |
T |
A |
10: 89,644,383 (GRCm39) |
M29K |
probably benign |
Het |
Boc |
G |
A |
16: 44,313,187 (GRCm39) |
T559I |
probably damaging |
Het |
Cadps |
A |
T |
14: 12,473,497 (GRCm38) |
I876N |
possibly damaging |
Het |
Cdh9 |
A |
G |
15: 16,855,930 (GRCm39) |
T657A |
probably damaging |
Het |
Cep104 |
T |
C |
4: 154,086,734 (GRCm39) |
S794P |
possibly damaging |
Het |
Cep72 |
T |
C |
13: 74,188,260 (GRCm39) |
Q211R |
probably benign |
Het |
Coq6 |
T |
A |
12: 84,415,413 (GRCm39) |
D145E |
probably benign |
Het |
Crym |
T |
C |
7: 119,801,116 (GRCm39) |
E11G |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,508,864 (GRCm39) |
M2907K |
possibly damaging |
Het |
Cspg4 |
A |
C |
9: 56,793,932 (GRCm39) |
I556L |
probably benign |
Het |
Cwf19l2 |
T |
A |
9: 3,456,831 (GRCm39) |
D721E |
probably damaging |
Het |
Defb36 |
T |
A |
2: 152,454,503 (GRCm39) |
V54E |
probably damaging |
Het |
Dlg5 |
C |
A |
14: 24,242,981 (GRCm39) |
E55* |
probably null |
Het |
Dna2 |
G |
T |
10: 62,802,452 (GRCm39) |
A857S |
possibly damaging |
Het |
E330034G19Rik |
A |
G |
14: 24,346,892 (GRCm39) |
K60E |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,934,920 (GRCm39) |
R76Q |
possibly damaging |
Het |
Fbxl18 |
A |
G |
5: 142,881,022 (GRCm39) |
|
probably benign |
Het |
Flnc |
T |
A |
6: 29,444,044 (GRCm39) |
C619* |
probably null |
Het |
Ftcd |
A |
G |
10: 76,423,967 (GRCm39) |
K503E |
probably benign |
Het |
Gbp2b |
C |
T |
3: 142,317,126 (GRCm39) |
A494V |
possibly damaging |
Het |
Gfral |
C |
T |
9: 76,115,900 (GRCm39) |
A25T |
probably benign |
Het |
Gins2 |
T |
A |
8: 121,315,684 (GRCm39) |
D24V |
possibly damaging |
Het |
Gm10985 |
T |
C |
3: 53,752,683 (GRCm39) |
I22T |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,387,251 (GRCm39) |
S1458T |
probably damaging |
Het |
Gpatch1 |
T |
C |
7: 35,006,640 (GRCm39) |
K176R |
probably damaging |
Het |
Gsto1 |
T |
C |
19: 47,846,338 (GRCm39) |
W62R |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Gxylt1 |
A |
G |
15: 93,152,180 (GRCm39) |
|
probably null |
Het |
Hs6st1 |
C |
T |
1: 36,142,719 (GRCm39) |
P218L |
probably benign |
Het |
Itpr3 |
C |
T |
17: 27,322,880 (GRCm39) |
T1119M |
possibly damaging |
Het |
Kif5c |
A |
G |
2: 49,620,211 (GRCm39) |
D226G |
possibly damaging |
Het |
Klk1b1 |
T |
A |
7: 43,620,593 (GRCm39) |
S228T |
probably damaging |
Het |
Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
Large1 |
A |
G |
8: 73,564,081 (GRCm39) |
S562P |
possibly damaging |
Het |
Lpxn |
T |
A |
19: 12,810,023 (GRCm39) |
M265K |
possibly damaging |
Het |
Lrriq1 |
G |
A |
10: 103,006,457 (GRCm39) |
P1223S |
possibly damaging |
Het |
Map3k9 |
A |
G |
12: 81,778,798 (GRCm39) |
L505P |
possibly damaging |
Het |
Morn2 |
A |
G |
17: 80,604,709 (GRCm39) |
D128G |
probably damaging |
Het |
Msl2 |
A |
G |
9: 100,978,936 (GRCm39) |
K437E |
possibly damaging |
Het |
Msr1 |
T |
C |
8: 40,064,760 (GRCm39) |
I305V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,598,066 (GRCm39) |
E3237G |
possibly damaging |
Het |
Mxra8 |
T |
C |
4: 155,925,465 (GRCm39) |
M58T |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,372,676 (GRCm39) |
D125G |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,152,546 (GRCm39) |
Q631R |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,072,229 (GRCm39) |
H538L |
probably benign |
Het |
Nme3 |
T |
A |
17: 25,115,823 (GRCm39) |
|
probably null |
Het |
Nop2 |
T |
C |
6: 125,110,726 (GRCm39) |
S68P |
probably benign |
Het |
Nploc4 |
C |
T |
11: 120,275,440 (GRCm39) |
V499M |
probably benign |
Het |
Nub1 |
A |
G |
5: 24,913,814 (GRCm39) |
E565G |
possibly damaging |
Het |
Or1e19 |
C |
T |
11: 73,316,272 (GRCm39) |
C179Y |
probably damaging |
Het |
Or6e1 |
A |
G |
14: 54,519,825 (GRCm39) |
F176L |
probably damaging |
Het |
Or7e168 |
A |
G |
9: 19,719,674 (GRCm39) |
D20G |
probably damaging |
Het |
Or9g3 |
G |
A |
2: 85,589,994 (GRCm39) |
S242F |
probably damaging |
Het |
Parl |
A |
G |
16: 20,101,762 (GRCm39) |
M90T |
probably damaging |
Het |
Pelo |
T |
C |
13: 115,226,152 (GRCm39) |
I102V |
probably benign |
Het |
Pigt |
T |
A |
2: 164,343,482 (GRCm39) |
Y319* |
probably null |
Het |
Plxna4 |
T |
C |
6: 32,134,915 (GRCm39) |
N1763D |
possibly damaging |
Het |
Pmpca |
A |
G |
2: 26,280,553 (GRCm39) |
E133G |
probably damaging |
Het |
Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
Qsox2 |
A |
G |
2: 26,115,230 (GRCm39) |
M1T |
probably null |
Het |
Ralb |
C |
T |
1: 119,411,265 (GRCm39) |
V25I |
probably damaging |
Het |
Rbbp6 |
A |
G |
7: 122,601,057 (GRCm39) |
|
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,618,271 (GRCm39) |
E187G |
probably damaging |
Het |
Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
Scap |
A |
G |
9: 110,206,712 (GRCm39) |
S386G |
probably damaging |
Het |
Skint10 |
T |
C |
4: 112,573,067 (GRCm39) |
Y243C |
probably damaging |
Het |
Stpg2 |
A |
G |
3: 139,125,547 (GRCm39) |
T447A |
probably benign |
Het |
Tas1r1 |
G |
A |
4: 152,122,782 (GRCm39) |
A21V |
probably damaging |
Het |
Tas2r122 |
C |
T |
6: 132,688,335 (GRCm39) |
G186E |
probably benign |
Het |
Tenm4 |
C |
A |
7: 96,545,416 (GRCm39) |
Y2477* |
probably null |
Het |
Them7 |
A |
G |
2: 105,209,153 (GRCm39) |
T158A |
probably benign |
Het |
Tmcc2 |
A |
C |
1: 132,285,543 (GRCm39) |
S608A |
probably benign |
Het |
Ttc41 |
T |
C |
10: 86,596,784 (GRCm39) |
|
probably null |
Het |
Ttk |
T |
A |
9: 83,744,588 (GRCm39) |
N593K |
possibly damaging |
Het |
Tulp1 |
A |
G |
17: 28,578,172 (GRCm39) |
V289A |
possibly damaging |
Het |
Unc93a2 |
T |
C |
17: 7,631,202 (GRCm39) |
T456A |
probably benign |
Het |
Usp34 |
A |
C |
11: 23,438,336 (GRCm39) |
Q278P |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,570,737 (GRCm39) |
D418E |
probably benign |
Het |
Vmn2r90 |
C |
T |
17: 17,932,336 (GRCm39) |
A81V |
probably damaging |
Het |
Xpc |
T |
A |
6: 91,475,117 (GRCm39) |
N636I |
probably damaging |
Het |
Zfp563 |
A |
T |
17: 33,308,431 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Plb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00096:Plb1
|
APN |
5 |
32,503,080 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00542:Plb1
|
APN |
5 |
32,427,178 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00835:Plb1
|
APN |
5 |
32,521,516 (GRCm39) |
missense |
unknown |
|
IGL00954:Plb1
|
APN |
5 |
32,455,858 (GRCm39) |
splice site |
probably benign |
|
IGL01350:Plb1
|
APN |
5 |
32,474,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01527:Plb1
|
APN |
5 |
32,474,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01599:Plb1
|
APN |
5 |
32,499,888 (GRCm39) |
splice site |
probably benign |
|
IGL01690:Plb1
|
APN |
5 |
32,471,041 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01813:Plb1
|
APN |
5 |
32,486,429 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01826:Plb1
|
APN |
5 |
32,438,489 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02263:Plb1
|
APN |
5 |
32,478,692 (GRCm39) |
splice site |
probably benign |
|
IGL02314:Plb1
|
APN |
5 |
32,438,492 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02649:Plb1
|
APN |
5 |
32,519,912 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02701:Plb1
|
APN |
5 |
32,521,541 (GRCm39) |
missense |
unknown |
|
IGL02704:Plb1
|
APN |
5 |
32,511,011 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03170:Plb1
|
APN |
5 |
32,442,246 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03182:Plb1
|
APN |
5 |
32,502,259 (GRCm39) |
splice site |
probably benign |
|
IGL03326:Plb1
|
APN |
5 |
32,488,671 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03046:Plb1
|
UTSW |
5 |
32,485,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Plb1
|
UTSW |
5 |
32,506,959 (GRCm39) |
splice site |
probably benign |
|
R0013:Plb1
|
UTSW |
5 |
32,506,959 (GRCm39) |
splice site |
probably benign |
|
R0034:Plb1
|
UTSW |
5 |
32,430,457 (GRCm39) |
missense |
probably benign |
0.16 |
R0034:Plb1
|
UTSW |
5 |
32,430,457 (GRCm39) |
missense |
probably benign |
0.16 |
R0330:Plb1
|
UTSW |
5 |
32,512,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R0413:Plb1
|
UTSW |
5 |
32,512,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R0721:Plb1
|
UTSW |
5 |
32,521,539 (GRCm39) |
missense |
unknown |
|
R0735:Plb1
|
UTSW |
5 |
32,442,264 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1423:Plb1
|
UTSW |
5 |
32,450,601 (GRCm39) |
missense |
probably benign |
|
R1428:Plb1
|
UTSW |
5 |
32,422,256 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1469:Plb1
|
UTSW |
5 |
32,512,170 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1469:Plb1
|
UTSW |
5 |
32,512,170 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1694:Plb1
|
UTSW |
5 |
32,474,621 (GRCm39) |
missense |
probably null |
0.01 |
R1801:Plb1
|
UTSW |
5 |
32,450,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R1804:Plb1
|
UTSW |
5 |
32,511,041 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1900:Plb1
|
UTSW |
5 |
32,444,191 (GRCm39) |
missense |
probably benign |
0.44 |
R1903:Plb1
|
UTSW |
5 |
32,448,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:Plb1
|
UTSW |
5 |
32,507,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R2153:Plb1
|
UTSW |
5 |
32,471,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R2207:Plb1
|
UTSW |
5 |
32,473,984 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2270:Plb1
|
UTSW |
5 |
32,450,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Plb1
|
UTSW |
5 |
32,450,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2311:Plb1
|
UTSW |
5 |
32,427,162 (GRCm39) |
missense |
probably benign |
0.01 |
R2850:Plb1
|
UTSW |
5 |
32,450,568 (GRCm39) |
missense |
probably benign |
|
R3103:Plb1
|
UTSW |
5 |
32,485,373 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4444:Plb1
|
UTSW |
5 |
32,487,909 (GRCm39) |
missense |
probably benign |
0.06 |
R4559:Plb1
|
UTSW |
5 |
32,490,175 (GRCm39) |
missense |
probably damaging |
0.99 |
R4577:Plb1
|
UTSW |
5 |
32,404,901 (GRCm39) |
nonsense |
probably null |
|
R4578:Plb1
|
UTSW |
5 |
32,404,901 (GRCm39) |
nonsense |
probably null |
|
R4739:Plb1
|
UTSW |
5 |
32,507,023 (GRCm39) |
splice site |
probably null |
|
R4747:Plb1
|
UTSW |
5 |
32,507,003 (GRCm39) |
missense |
probably benign |
0.08 |
R4806:Plb1
|
UTSW |
5 |
32,447,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R5406:Plb1
|
UTSW |
5 |
32,499,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R5574:Plb1
|
UTSW |
5 |
32,487,291 (GRCm39) |
missense |
probably benign |
0.13 |
R5588:Plb1
|
UTSW |
5 |
32,487,293 (GRCm39) |
critical splice donor site |
probably null |
|
R5619:Plb1
|
UTSW |
5 |
32,490,841 (GRCm39) |
missense |
probably damaging |
0.99 |
R5769:Plb1
|
UTSW |
5 |
32,474,866 (GRCm39) |
missense |
probably benign |
0.05 |
R6366:Plb1
|
UTSW |
5 |
32,471,429 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6700:Plb1
|
UTSW |
5 |
32,490,808 (GRCm39) |
missense |
probably damaging |
0.99 |
R7162:Plb1
|
UTSW |
5 |
32,507,007 (GRCm39) |
missense |
probably benign |
0.30 |
R7379:Plb1
|
UTSW |
5 |
32,502,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R7395:Plb1
|
UTSW |
5 |
32,511,028 (GRCm39) |
missense |
probably benign |
0.30 |
R7426:Plb1
|
UTSW |
5 |
32,478,591 (GRCm39) |
splice site |
probably null |
|
R7643:Plb1
|
UTSW |
5 |
32,404,901 (GRCm39) |
nonsense |
probably null |
|
R7657:Plb1
|
UTSW |
5 |
32,487,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R7780:Plb1
|
UTSW |
5 |
32,483,610 (GRCm39) |
splice site |
probably null |
|
R8040:Plb1
|
UTSW |
5 |
32,430,413 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8212:Plb1
|
UTSW |
5 |
32,422,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R8312:Plb1
|
UTSW |
5 |
32,485,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R8560:Plb1
|
UTSW |
5 |
32,460,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8770:Plb1
|
UTSW |
5 |
32,404,853 (GRCm39) |
missense |
unknown |
|
R8857:Plb1
|
UTSW |
5 |
32,521,556 (GRCm39) |
missense |
unknown |
|
R9029:Plb1
|
UTSW |
5 |
32,439,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R9110:Plb1
|
UTSW |
5 |
32,521,402 (GRCm39) |
missense |
probably benign |
0.00 |
R9765:Plb1
|
UTSW |
5 |
32,512,731 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Plb1
|
UTSW |
5 |
32,443,227 (GRCm39) |
missense |
probably benign |
0.01 |
X0019:Plb1
|
UTSW |
5 |
32,511,041 (GRCm39) |
missense |
probably damaging |
0.99 |
X0027:Plb1
|
UTSW |
5 |
32,427,702 (GRCm39) |
missense |
probably benign |
|
X0028:Plb1
|
UTSW |
5 |
32,460,019 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Plb1
|
UTSW |
5 |
32,468,261 (GRCm39) |
missense |
probably benign |
|
Z1088:Plb1
|
UTSW |
5 |
32,468,191 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Plb1
|
UTSW |
5 |
32,442,241 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACCCTCCGGAATAGTCAG -3'
(R):5'- CAGATAGTCTGCAGGTAACTCC -3'
Sequencing Primer
(F):5'- TAGTCAGCTTCTTCCAGACAAGG -3'
(R):5'- GTCTTTCAACAGAAGCCCAGAAG -3'
|
Posted On |
2016-10-24 |